ClinVar Miner

Submissions for variant NM_001458.5(FLNC):c.5418G>A (p.Ser1806=)

gnomAD frequency: 0.00090  dbSNP: rs376078394
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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000339649 SCV000345530 uncertain significance not provided 2016-08-25 criteria provided, single submitter clinical testing
Invitae RCV001080768 SCV000651075 benign Myofibrillar myopathy 5; Distal myopathy with posterior leg and anterior hand involvement; Hypertrophic cardiomyopathy 26; Dilated Cardiomyopathy, Dominant 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000339649 SCV001826726 likely benign not provided 2018-10-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002348027 SCV002647909 likely benign Cardiovascular phenotype 2019-06-28 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001699335 SCV004038051 benign not specified 2023-08-19 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001699335 SCV001921939 benign not specified no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV000339649 SCV001926737 likely benign not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV000339649 SCV001953015 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV000339649 SCV001974539 likely benign not provided no assertion criteria provided clinical testing

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